Search research articles
Contact Us
Filters
Showing results (21-30 of 86) with videos related to
Page
of 9
Sort By:
Neurology. Genetics
|
July 13, 2022
A Biallelic Variant in <i>FRA10AC1</i> Is Associated With Neurodevelopmental Disorder and Growth Retardation
Norah Alsaleh, Amal Alhashem, Brahim Tabarki, et al.
JIMD Reports
|
October 11, 2015
Further Delineation of the ALG9-CDG Phenotype
Sarah AlSubhi, Amal AlHashem, Anas AlAzami, et al.
Neurology. Genetics
|
July 23, 2024
Multiplex Consanguineous Family Highlights <i>CLASP1</i> as a Candidate Gene for Lissencephaly
Rawan Alsafh, Amal Alhashem, Aly Elsyed, et al.
Molecular Genetics and Metabolism Reports
|
November 8, 2021
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
Anar Alfarsi, Majid Alfadhel, Seham Alameer, et al.
American Journal of Human Genetics
|
August 27, 2013
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome
Hanan E Shamseldin, Anna Rajab, Amal Alhashem, et al.
European Journal of Medical Genetics
|
April 19, 2021
Hypospadias in ring X syndrome
Hatem Elghezal, Khowla Alfayez, Inesse Ben Abdallah, et al.
American Journal of Medical Genetics. Part A
|
September 12, 2023
Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy
Sahar Tulbah, Nadiah Alruwaili, Amal Alhashem, et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society
|
December 29, 2023
Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series
Enam Danish, Amal Alhashem, Reham Aljehani, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2025
Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum
Amal AlHashem, Hanan AlQudairy, Jana Raed, et al.
Clinical Genetics
|
August 18, 2021
Molecular autopsy by proxy in preconception counseling
Malak Ali Alghamdi, Ameinah Alrasheedi, Esra Alghamdi, et al.
Page
of 9
Search research articles
Search
Showing results (21-30 of 86) with videos related to
Sort By:
Page
of 9
Neurology. Genetics
|
July 13, 2022
A Biallelic Variant in <i>FRA10AC1</i> Is Associated With Neurodevelopmental Disorder and Growth Retardation
Norah Alsaleh, Amal Alhashem, Brahim Tabarki, et al.
JIMD Reports
|
October 11, 2015
Further Delineation of the ALG9-CDG Phenotype
Sarah AlSubhi, Amal AlHashem, Anas AlAzami, et al.
Neurology. Genetics
|
July 23, 2024
Multiplex Consanguineous Family Highlights <i>CLASP1</i> as a Candidate Gene for Lissencephaly
Rawan Alsafh, Amal Alhashem, Aly Elsyed, et al.
Molecular Genetics and Metabolism Reports
|
November 8, 2021
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
Anar Alfarsi, Majid Alfadhel, Seham Alameer, et al.
American Journal of Human Genetics
|
August 27, 2013
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome
Hanan E Shamseldin, Anna Rajab, Amal Alhashem, et al.
European Journal of Medical Genetics
|
April 19, 2021
Hypospadias in ring X syndrome
Hatem Elghezal, Khowla Alfayez, Inesse Ben Abdallah, et al.
American Journal of Medical Genetics. Part A
|
September 12, 2023
Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy
Sahar Tulbah, Nadiah Alruwaili, Amal Alhashem, et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society
|
December 29, 2023
Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series
Enam Danish, Amal Alhashem, Reham Aljehani, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2025
Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum
Amal AlHashem, Hanan AlQudairy, Jana Raed, et al.
Clinical Genetics
|
August 18, 2021
Molecular autopsy by proxy in preconception counseling
Malak Ali Alghamdi, Ameinah Alrasheedi, Esra Alghamdi, et al.
Page
of 9